PPP1R2C PPP1R2 family member C [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R2Cprovided by HGNC
Official Full Name: PPP1R2 family member Cprovided by HGNC
Primary source: HGNC:HGNC:16324
See related: Ensembl:ENSG00000102055 MIM:301017; AllianceGenome:HGNC:16324
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: I-4; PPP1R2P9
Summary: Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: Xp11.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (42777366..42778163, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (42183380..42184177, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (42636617..42637414, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

inhibitor-1beta consisted of 132 amino acids of which the N-terminal 61 amino acid sequences were identical to inhibitor-1 while the sequence after residue-61 was markedly different.
Title: Identification of the alternative splice products encoded by the human protein phosphatase inhibitor-1 gene.
A streamlined nomenclature for human primary regulators of type-1 protein phosphatase (PP1) genes and pseudogenes is proposed.
Title: Regulator-driven functional diversification of protein phosphatase-1 in eukaryotic evolution.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase inhibitor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of signal transduction	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein phosphatase inhibitor 2 family member C

Names: PPP1R2 family member B; PPP1R2C family member C; protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 9; protein phosphatase 1 regulatory inhibitor subunit 2-like 9; putative type-1 protein phosphatase inhibitor 4; type 1 protein phosphatase inhibitor; type-1 protein phosphatase inhibitor 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_025210.2 → NP_079486.1 protein phosphatase inhibitor 2 family member C

Status: VALIDATED

Source sequence(s)

AB044137

Consensus CDS

CCDS87739.1

UniProtKB/Swiss-Prot

O14990, Q5H958

Related

ENSP00000490336.1, ENST00000378131.4

Conserved Domains (1) summary

pfam04979
Location:45 → 170

IPP-2; Protein phosphatase inhibitor 2 (IPP-2)